Canonical Allele Identifier: CA473298568

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17397033-G-T
• MyVariant Identifiers: chr11:g.17418580G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397033G>T , CM000673.2:g.17397033G>T	GRCh38
NC_000011.9:g.17418580G>T , CM000673.1:g.17418580G>T	GRCh37
NC_000011.8:g.17375156G>T	NCBI36
NG_008867.1:g.84870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3603C>A
ENST00000528374.2:c.593C>A
ENST00000529967.6:n.2341C>A
ENST00000532220.2:n.2250C>A
ENST00000642611.2:n.4217C>A
ENST00000644057.2:n.445C>A
ENST00000645004.2:n.1501C>A
ENST00000682051.1:n.4164C>A
ENST00000682110.1:n.4217C>A
ENST00000682140.1:c.3985+160C>A	ENSP00000507829.1:n.3985+160C>A
ENST00000682185.1:n.5307C>A
ENST00000682204.1:c.*2140C>A	ENSP00000507094.1:n.*2140C>A
ENST00000682215.1:n.4584C>A
ENST00000682288.1:c.*2433C>A	ENSP00000507506.1:n.*2433C>A
ENST00000682442.1:n.4437C>A
ENST00000682528.1:n.4294C>A
ENST00000682673.1:n.4161C>A
ENST00000682805.1:n.4584C>A
ENST00000682965.1:c.*424C>A	ENSP00000508229.1:n.*424C>A
ENST00000683093.1:n.4316C>A
ENST00000683136.1:c.3885C>A	ENSP00000507768.1:p.Ile1295=
ENST00000683153.1:n.4259C>A
ENST00000683365.1:n.4319C>A
ENST00000683377.1:n.4217C>A
ENST00000683456.1:c.*1139C>A	ENSP00000508318.1:n.*1139C>A
ENST00000683522.1:n.4217C>A
ENST00000683562.1:c.*2171C>A	ENSP00000508265.1:n.*2171C>A
ENST00000683693.1:n.4664C>A
ENST00000683725.1:c.4002C>A	ENSP00000507496.1:p.Ile1334=
ENST00000684010.1:n.4212C>A
ENST00000684157.1:n.4217C>A
ENST00000684253.1:n.4120C>A
ENST00000684288.1:c.*2174C>A	ENSP00000507143.1:n.*2174C>A
ENST00000684313.1:n.3649C>A
ENST00000684332.1:n.4290C>A
ENST00000684371.1:n.4323C>A
ENST00000684404.1:n.4260C>A
ENST00000684442.1:n.4441C>A
ENST00000684555.1:c.*2214C>A	ENSP00000507705.1:n.*2214C>A
ENST00000684571.1:c.3843C>A	ENSP00000506935.1:p.Ile1281=
ENST00000684593.1:c.*3707C>A	ENSP00000507005.1:n.*3707C>A
ENST00000684711.1:c.*2398C>A	ENSP00000506841.1:n.*2398C>A
ENST00000302539.9:c.4005C>A	ENSP00000303960.4:p.Ile1335=
ENST00000389817.8:c.4002C>A MANE Select	ENSP00000374467.4:p.Ile1334=
ENST00000642271.1:c.3999C>A	ENSP00000493749.1:p.Ile1333=
ENST00000642579.1:c.2073-17C>A
ENST00000642611.1:n.4102C>A
ENST00000642902.1:c.3784C>A
ENST00000643260.1:c.4002C>A	ENSP00000494450.1:p.Ile1334=
ENST00000643562.1:c.*2124C>A	ENSP00000496124.1:n.*2124C>A
ENST00000643925.1:c.2642C>A
ENST00000644057.1:n.79C>A
ENST00000644484.1:c.*2403C>A	ENSP00000493558.1:n.*2403C>A
ENST00000644675.1:c.*2174C>A	ENSP00000494567.1:n.*2174C>A
ENST00000644757.1:c.*2433C>A	ENSP00000495085.1:n.*2433C>A
ENST00000644772.1:c.4068C>A	ENSP00000494321.1:p.Ile1356=
ENST00000645004.1:n.1657C>A
ENST00000645076.1:c.3201C>A
ENST00000645417.1:c.1190C>A
ENST00000645744.1:c.*2782C>A	ENSP00000494564.1:n.*2782C>A
ENST00000645760.1:c.4423C>A
ENST00000645884.1:c.*1285C>A	ENSP00000495516.1:n.*1285C>A
ENST00000646003.1:c.*2104C>A	ENSP00000495259.1:n.*2104C>A
ENST00000646207.1:c.*2839C>A	ENSP00000495025.1:n.*2839C>A
ENST00000646276.1:c.*2421C>A	ENSP00000496070.1:n.*2421C>A
ENST00000646592.1:c.3308C>A
ENST00000646902.1:c.3986-17C>A	ENSP00000494101.1:n.3986-17C>A
ENST00000646993.1:c.*2544C>A	ENSP00000493720.1:n.*2544C>A
ENST00000647013.1:c.4008C>A	ENSP00000496741.1:n.4008C>A
ENST00000647015.1:c.3753C>A	ENSP00000495389.1:p.Ile1251=
ENST00000647086.1:c.*3605-17C>A	ENSP00000493677.1:n.*3605-17C>A
ENST00000647158.1:c.*2289C>A	ENSP00000495744.1:n.*2289C>A
ENST00000302539.8:c.4005C>A	ENSP00000303960.4:p.Ile1335=
ENST00000389817.7:c.4002C>A	ENSP00000374467.3:p.Ile1334=
ENST00000527905.5:c.*1024C>A	ENSP00000431653.1:n.*1024C>A
ENST00000528374.1:c.484C>A
ENST00000531137.1:n.567C>A
ENST00000531891.1:c.357-17C>A
ENST00000532220.1:n.476C>A
NM_000352.4:c.4002C>A	NP_000343.2:p.Ile1334=
NM_001287174.1:c.4005C>A	NP_001274103.1:p.Ile1335=
XM_011520331.1:c.4002C>A	XP_011518633.1:p.Ile1334=
XM_011520332.1:c.4005C>A	XP_011518634.1:p.Ile1335=
XM_011520333.1:c.2502C>A	XP_011518635.1:p.Ile834=
XR_930890.1:n.4068C>A
NM_001351295.1:c.4068C>A	NP_001338224.1:p.Ile1356=
NM_001351296.1:c.4002C>A	NP_001338225.1:p.Ile1334=
NM_001351297.1:c.3999C>A	NP_001338226.1:p.Ile1333=
NR_147094.1:n.4297C>A
XM_017018197.2:c.4071C>A	XP_016873686.1:p.Ile1357=
XM_017018199.1:c.4068C>A	XP_016873688.1:p.Ile1356=
XM_017018201.2:c.4071C>A	XP_016873690.1:p.Ile1357=
XM_017018202.1:c.2568C>A	XP_016873691.1:p.Ile856=
XM_017018204.1:c.1959C>A	XP_016873693.1:p.Ile653=
XM_024448668.1:c.2370C>A	XP_024304436.1:p.Ile790=
XR_001747945.2:n.4143C>A
XR_001747946.2:n.4074C>A
XR_002957189.1:n.4739C>A
NM_000352.6:c.4002C>A MANE Select	NP_000343.2:p.Ile1334=
NM_001287174.2:c.4005C>A	NP_001274103.1:p.Ile1335=
NM_001351295.2:c.4068C>A	NP_001338224.1:p.Ile1356=
NM_001351296.2:c.4002C>A	NP_001338225.1:p.Ile1334=
NM_001351297.2:c.3999C>A	NP_001338226.1:p.Ile1333=
NR_147094.2:n.4297C>A
NM_001287174.3:c.4005C>A	NP_001274103.1:p.Ile1335=